GeneID: 186



Names

Common Name: EML1 Type: Gene
Chromosome: 14 (NC_000014.9) Locus: N/A
HUGO Symbol: EML1 Full Name: echinoderm microtubule associated protein like 1
Exons: 23 Introns: 22

Description:
The EML1 gene encodes a protein that belongs to the family of microtubule-associated proteins (MAPs). Microtubules (MTs) are components of the cytoskeleton with important role in cell motility, cell morphogenesis and cell division among others. MAPs are major accessory proteins on MTs, and function in the regulation of MT assembly, organization and dynamics. The most abundant MAP was identified in dividing sea urchin embryos, and was therefore called the echinoderm MT-associated protein (EMAP). EMAP localizes to the MTs of the first cleavage mitotic spindle as well as with MTs in adult coelomocytes, indicating its involvement in the regulation of MT assembly during the cell cycle. The human EMAP (HuEMAP) is a 79-kDa protein that is similar to EMAP, sharing a unique hydrophobic EML protein domain (HELP; hydrophobic echinoderm–microtubule-associated-like protein) and a variable number of WD-repeat-containing proteins. Each WD repeat folds into a structure of β-strands and β-turns that takes on the appearance of a propeller, with the most accessible and usually variable regions serving as potential sites of protein-protein interactions. The HuEMAP gene is mapped on the 14q32 locus, which is characterized as a tumor suppressor locus in a variety of cancers and as the Usher syndrome type Ia locus. Mutations in this gene associated with HbF response to hydroxyurea in patients with sickle cell disease, while the exact mechanism of action is not currently known.

Synonyms: ELP79 , EMAP , EMAPL , HuEMAP

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Suprenant KA, Dean K, McKee J, Hake S, EMAP, an echinoderm microtubule-associated protein found in microtubule-ribosome complexes., J. Cell. Sci. , 104(2), 445-50, 1993 PubMed
  2. Eudy JD, Ma-Edmonds M, Yao SF, Talmadge CB, Kelley PM, Weston MD, Kimberling WJ, Sumegi J, Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32., Genomics , 43(1), 104-6, 1997 PubMed
  3. Hamill DR, Howell B, Cassimeris L, Suprenant KA, Purification of a WD repeat protein, EMAP, that promotes microtubule dynamics through an inhibition of rescue., J. Biol. Chem. , 273(15), 9285-91, 1998 PubMed
  4. Lepley DM, Palange JM, Suprenant KA, Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2)., Gene , 237(2), 343-9, 1999 PubMed
  5. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
  6. Richards MW, Law EW, Rennalls LP, Busacca S, O'Regan L, Fry AM, Fennell DA, Bayliss R, Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical β-propeller domain., Proc. Natl. Acad. Sci. U.S.A. , 111(14), 5195-200, 2014 PubMed
Created on 2016-10-17 22:32:54, Last reviewed on 2016-10-17 23:57:23 (Show full history)


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